CDKL5 Variant

   CSV explantation text

Variant ID: cm40
Systematic name: c.2500C>T
Protein name: p.Gln834*
Alternate name(s): p.Q834X
Mutation type: nonsense
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID: rs122460158

First reference: Nectoux, J., Heron, D., Tallot, M., Chelly, J., Bienvenu, T. (2006) Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 70:29-33. Pubmed ID: 16813600


Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[2500C>T;2995G>A] p.Gln834* Rett syndrome - early seizure Female 16813600, Nectoux et al (2006) cp54
c.2500C>T p.Gln834* Rett syndrome - atypical Female 18790821, Bahi-Buisson et al (2008) cp66

Displaying a total number of 2 proband entries matching this variant.